EP3583213A4 - Single sperm gene expression and mutation analysis for prediction of diseases - Google Patents
Single sperm gene expression and mutation analysis for prediction of diseases Download PDFInfo
- Publication number
- EP3583213A4 EP3583213A4 EP18754777.3A EP18754777A EP3583213A4 EP 3583213 A4 EP3583213 A4 EP 3583213A4 EP 18754777 A EP18754777 A EP 18754777A EP 3583213 A4 EP3583213 A4 EP 3583213A4
- Authority
- EP
- European Patent Office
- Prior art keywords
- prediction
- diseases
- gene expression
- mutation analysis
- single sperm
- Prior art date
- Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
- Granted
Links
- 201000010099 disease Diseases 0.000 title 1
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 title 1
- 230000014509 gene expression Effects 0.000 title 1
- 230000035772 mutation Effects 0.000 title 1
Classifications
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- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
- C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6813—Hybridisation assays
- C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
- G16B30/20—Sequence assembly
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
- G16H50/00—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
- G16H50/30—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for calculating health indices; for individual health risk assessment
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/158—Expression markers
Landscapes
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Health & Medical Sciences (AREA)
- Engineering & Computer Science (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Organic Chemistry (AREA)
- Physics & Mathematics (AREA)
- Analytical Chemistry (AREA)
- General Health & Medical Sciences (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Genetics & Genomics (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Biotechnology (AREA)
- Biophysics (AREA)
- Medical Informatics (AREA)
- Molecular Biology (AREA)
- General Engineering & Computer Science (AREA)
- Immunology (AREA)
- Microbiology (AREA)
- Biochemistry (AREA)
- Pathology (AREA)
- Bioinformatics & Computational Biology (AREA)
- Theoretical Computer Science (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Public Health (AREA)
- Evolutionary Biology (AREA)
- Databases & Information Systems (AREA)
- Primary Health Care (AREA)
- Epidemiology (AREA)
- Data Mining & Analysis (AREA)
- Biomedical Technology (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
Applications Claiming Priority (2)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
US201762460408P | 2017-02-17 | 2017-02-17 | |
PCT/US2018/018534 WO2018152432A1 (en) | 2017-02-17 | 2018-02-17 | Single sperm gene expression and mutation analysis for prediction of diseases |
Publications (3)
Publication Number | Publication Date |
---|---|
EP3583213A1 EP3583213A1 (en) | 2019-12-25 |
EP3583213A4 true EP3583213A4 (en) | 2020-12-02 |
EP3583213B1 EP3583213B1 (en) | 2023-04-19 |
Family
ID=63169660
Family Applications (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
EP18754777.3A Active EP3583213B1 (en) | 2017-02-17 | 2018-02-17 | Single sperm gene expression and mutation analysis for prediction of diseases |
Country Status (3)
Country | Link |
---|---|
US (1) | US12065700B2 (en) |
EP (1) | EP3583213B1 (en) |
WO (1) | WO2018152432A1 (en) |
Families Citing this family (9)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
CN111466338B (en) * | 2019-01-23 | 2022-03-22 | 中国科学院广州生物医药与健康研究院 | Ddx5 gene-deleted spermatogenesis dysfunction mouse model and construction method thereof |
CN111321225B (en) * | 2020-03-02 | 2021-08-17 | 中山大学孙逸仙纪念医院 | Application of lncRNA evaluation system in prediction of tumor immunotherapy effect |
CN111973744B (en) * | 2020-07-15 | 2022-07-01 | 北京大学深圳医院 | Application of PLCE1-AS2 in breast cancer |
CN113436681B (en) * | 2021-07-05 | 2022-02-25 | 温州谱希医学检验实验室有限公司 | Method and related equipment for performing associated statistical test on low-frequency variation and target disease |
CN114941028B (en) * | 2021-07-16 | 2023-06-02 | 武汉艾米森生命科技有限公司 | Reagent and kit for detecting and diagnosing colorectal cancer |
CN114606311B (en) * | 2022-04-11 | 2023-09-26 | 河北省生殖健康科学技术研究院 | Application of SLC39A13 gene rs755555 locus, detection primer and probe combination thereof and kit |
CN115927455A (en) * | 2022-06-22 | 2023-04-07 | 华中科技大学 | Construction method and application of animal model of Bag5 knockout mouse |
CN115976033B (en) * | 2022-12-14 | 2024-05-17 | 西南大学 | Melon fly TSSK and TSSK genes and application thereof |
CN117025758B (en) * | 2023-09-19 | 2024-04-05 | 华北理工大学 | Application of circular RNA in preparation of biomarker for diagnosing autism |
Family Cites Families (3)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
EP2031071A1 (en) | 2007-08-31 | 2009-03-04 | Minitüb Abfüll- und Labortechnik GmbH & Co. KG | Method for categorizing samples containing spermatozoa by molecular profiling |
WO2012078602A2 (en) | 2010-12-06 | 2012-06-14 | Children's Medical Center Corporation | Method for diagnosis and method of treatment of autism spectrum disorders and intellectual disability |
CN102952855B (en) * | 2011-08-26 | 2015-05-20 | 深圳华大基因科技服务有限公司 | Genetic map construction method and device, haplotype analytical method and device |
-
2018
- 2018-02-17 WO PCT/US2018/018534 patent/WO2018152432A1/en unknown
- 2018-02-17 US US16/486,611 patent/US12065700B2/en active Active
- 2018-02-17 EP EP18754777.3A patent/EP3583213B1/en active Active
Non-Patent Citations (8)
Title |
---|
DELIA TOMOIAGA ET AL: "Single-cell sperm transcriptomes and variants from fathers of children with and without autism spectrum disorder", NPJ GENOMIC MEDICINE, vol. 5, no. 1, 21 February 2020 (2020-02-21), XP055741129, DOI: 10.1038/s41525-020-0117-4 * |
JIAHUAN CHEN ET AL: "Single-cell SNP analyses and interpretations based on RNA-Seq data for colon cancer research", SCIENTIFIC REPORTS, vol. 6, no. 1, 28 September 2016 (2016-09-28), XP055742021, DOI: 10.1038/srep34420 * |
MANDY G. KATZ-JAFFE ET AL: "Aging sperm negatively impacts in vivo and in vitro reproduction: a longitudinal murine study", FERTILITY AND STERILITY, vol. 100, no. 1, 1 July 2013 (2013-07-01), NL, pages 262 - 268.e2, XP055742158, ISSN: 0015-0282, DOI: 10.1016/j.fertnstert.2013.03.021 * |
RAKESH SHARMA ET AL: "Effects of increased paternal age on sperm quality, reproductive outcome and associated epigenetic risks to offspring", REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY, BIOMED CENTRAL LTD, GB, vol. 13, no. 1, 19 April 2015 (2015-04-19), pages 35, XP021223071, ISSN: 1477-7827, DOI: 10.1186/S12958-015-0028-X * |
See also references of WO2018152432A1 * |
SHIHONG MAO ET AL: "A comparison of sperm RNA-seq methods", SYSTEMS BIOLOGY IN REPRODUCTIVE MEDICINE, vol. 60, no. 5, 31 July 2014 (2014-07-31), US, pages 308 - 315, XP055741310, ISSN: 1939-6368, DOI: 10.3109/19396368.2014.944318 * |
SPIESS A -N ET AL: "Gene expression analysis of single human spermatozoa: Approaches and caveats", JOURNAL FUR REPRODUKTIONSMEDIZIN UND ENDOKRINOLOGIE 2017 KRAUSE UND PACHERNEGG GMBH NLD, vol. 14, no. 5, 2017, pages - 7. DVR, XP009523545, ISSN: 1810-9292 * |
TIAN YU ET AL: "Microfluidics-based digital quantitative PCR for single-cell small RNA quantification+", BIOLOGY OF REPRODUCTION, vol. 97, no. 3, 31 August 2017 (2017-08-31), US, pages 490 - 496, XP055591868, ISSN: 0006-3363, DOI: 10.1093/biolre/iox102 * |
Also Published As
Publication number | Publication date |
---|---|
US20200010896A1 (en) | 2020-01-09 |
EP3583213A1 (en) | 2019-12-25 |
EP3583213B1 (en) | 2023-04-19 |
US12065700B2 (en) | 2024-08-20 |
WO2018152432A1 (en) | 2018-08-23 |
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